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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Pax3tm2Joe
targeted mutation 2, Jonathan A Epstein
MGI:4442462
Summary 4 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Pax3tm2Joe/Pax3tm2Joe involves: 129S1/Sv * 129X1/SvJ MGI:4442466
ht2
 		Pax3tm2Joe/Pax3+ involves: 129S1/Sv * 129X1/SvJ MGI:4442465
cn3
 		Pax3tm1(cre)Joe/Pax3tm2Joe involves: 129S1/Sv * 129X1/SvJ MGI:4442468
cn4
 		Pax3tm2Joe/Pax3tm2Joe
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J MGI:4442469


Genotype
MGI:4442466
hm1
Allelic
Composition		 Pax3tm2Joe/Pax3tm2Joe
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3tm2Joe mutation (0 available); any Pax3 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
prenatal lethality, complete penetrance ( J:159124 )
• embryonic lethality
• no specific age mentioned

nervous system
spina bifida ( J:159124 )
• spina bifida at E12.5
exencephaly ( J:159124 )
• exencephaly at E12.5

muscle
absent hypaxial muscle ( J:159124 )
• lack of hypaxial myoblasts expressing MyoD in the developing limbs of the mutant
• epaxial myoblasts expressing MyoD are present

cardiovascular system
abnormal cardiac outflow tract development ( J:159124 )
• conotruncal cardiac defects including persistent truncus arteriosus

embryo
spina bifida ( J:159124 )
• spina bifida at E12.5




Genotype
MGI:4442465
ht2
Allelic
Composition		 Pax3tm2Joe/Pax3+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3tm2Joe mutation (0 available); any Pax3 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
pigmentation
belly spot ( J:159124 )
• white belly spot

integument
belly spot ( J:159124 )
• white belly spot




Genotype
MGI:4442468
cn3
Allelic
Composition		 Pax3tm1(cre)Joe/Pax3tm2Joe
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pax3tm1(cre)Joe mutation (1 available); any Pax3 mutation (50 available)
Pax3tm2Joe mutation (0 available); any Pax3 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:159124 )
• no obvious phenotype, viable and fertile
• normal septation of the aorta and pulmonary artery
• normal forelimb musculature




Genotype
MGI:4442469
cn4
Allelic
Composition		 Pax3tm2Joe/Pax3tm2Joe
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S1/Sv * 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
Pax3tm2Joe mutation (0 available); any Pax3 mutation (50 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
neonatal lethality, complete penetrance ( J:159124 )
• mutant die immediately after birth

growth/size/body
decreased birth body size ( J:159124 )
• smaller than wild-type littermates at birth

homeostasis/metabolism
cyanosis ( J:159124 )
• cyanotic at birth

muscle
hypaxial muscle hypoplasia ( J:159124 )
• poorly developed limb and diaphragm musculature at birth
• skeletal muscle is severely deficient in the limbs
• severe deficiency of forelimb musculature

respiratory system
respiratory failure ( J:159124 )
• newborns fail to initiate respirations

embryo
spina bifida ( J:159124 )
• occasional mild spina bifida are seen at birth

cardiovascular system
cardiovascular system phenotype ( J:159124 )
N
• normal septation of the aorta and pulmonary artery

nervous system
spina bifida ( J:159124 )
• occasional mild spina bifida are seen at birth




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory